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Neurofibromatosis type 1 (NF1) is an autosomal dominant disease affecting chromosome 17. It is manifested by a neurogenic tumor proliferation that forms cutaneous, subcutaneous or deep neurofibromas.
Neurofibromas can cause functional discomfort, neurogenic pain that is difficult to treat, and severe cosmetic disorders.
Treatment is essentially surgical. It is sometimes a heavy invasive surgery with complicated postoperative follow-up and significant scarring on the aesthetic level. Currently, no systemic treatment has proven its effectiveness in this pathology.
Percutaneous cryotherapy is a cold thermoablation procedure using fine 17 G needles introduced into the lesion after targeting by imaging. This technique is used in the treatment of soft tissue tumors and desmoid tumors.
The treatment of neurofibromas with percutaneous cryotherapy is not well known. Encouraging results (unpublished) have been observed in patients with NF1 treated with cryotherapy at the Léon Bérard Center. The beneficial effect was observed in terms of quality of life (in particular, pain) as well as a decrease in tumor size.
On the basis of this first experience, it appears important to corroborate these preliminary results by a prospective study allowing the use of this technique to treat patients with unresectable or resectable neurofibromas but with mutilating surgery in a NF1 context.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Percutaneous cryotherapy | Experimental | Cryoablation of the tumor |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Cryotherapy | Device | The cryotherapy treatment lasts approximately 30 minutes during which two 10-minute freezing cycles are performed, separated by a reheating phase. During the freezing phases, the temperature is lowered below -40°C in the ablation zone, a temperature that is lethal for the cells. |
| Measure | Description | Time Frame |
|---|---|---|
| To evaluate the impact of percutaneous cryotherapy on physical health-related quality of life (in patients with inoperable (or operable with mutilating surgery) neurofibroma. | Rate of patients with clinically significant improvement in physical health-related quality of life. A patient will be considered successful if an increase of at least 3 points on the global physical score from the SF-36 questionnaire is observed at least once between baseline and 12 months after cryotherapy. | 12 months after cryotherapy |
| Measure | Description | Time Frame |
|---|---|---|
| To assess each quality of life dimension of the Short Form-36 (SF-36) questionnaire; | The score for each dimension, the mental global score and the physical global score from the SF-36 questionnaire | At baseline, at Month1 post cryotherapy ; Month 3 post cryotherapy; Month 6 post cryotherapy, Month 9 post cryotherapy, Month 12 post cryotherapy, Month 18 post cryotherapy and Month 24 post post cryotherapy ; |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Patrick COMBEMALE, MD | Contact | +33478785996 | patrick.combemale@lyon.unicancer.fr | |
| Amine BOUHAMAMA, MD | Contact | amine.bouhamama@lyon.unicancer.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre Leon Berard | Recruiting | Lyon | 69373 | France |
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| ID | Term |
|---|---|
| D009455 | Neurofibroma |
| D018318 | Neurofibroma, Plexiform |
| ID | Term |
|---|---|
| D018317 | Nerve Sheath Neoplasms |
| D009380 | Neoplasms, Nerve Tissue |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
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| ID | Term |
|---|---|
| D017679 | Cryotherapy |
| ID | Term |
|---|---|
| D013812 | Therapeutics |
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|
| To evaluate the tumor response | Local control rate using REiNS and RECIST 1.1 criteria | Month 3, Month 6, Month 9, Month 12, Month 18 , and Month 24 after cryotherapy |
| To evaluate the functional discomfort | Functional discomfort assessed by a Likert scale | At baseline, Month 1; Month 3; Month 6, Month 9, Month12, Month18 and Month 24 post cryotherapy |
| To evaluate the patients' pain | Pain assessed by the Brief Pain Inventory-Short Form (BPI-SF) questionnaire | At baseline, Month 1; Month 3; Month 6, Month 9, Month 12, Month 18 and Month 24 post cryotherapy |
| To evaluate the safety of percutaneous cryotherapy | Tolerance of cryotherapy treatment assessed according to the National Cancer Institute Common Terminology Criteria for Adverse Events (NCI-CTCAE) v5.0 | From cryotherapy to 24 months after cryotherapy |
| To evaluate patients' satisfaction | Patient satisfaction with their first cryotherapy treatment assessed by a Likert scale | At Month 12 post-cryotherapy; |
| To evaluate patients self-esteem | Self-esteem assessed by a questionnaire consisting of items evaluated on a Likert scale | at baseline, Month 1; Month 3; Month 6, Month 9, Month12, Month 18 and Month 24 post-cryotherapy |
| To evaluate the need for multiple percutaneous cryotherapy procedures in case of incomplete response on the target lesion; | Rate of patients for whom at least one additional percutaneous cryotherapy procedure is required | From cryotherapy to 24 months after cryotherapy |
| To evaluate operating room occupancy time. | Median operating room occupancy time calculated as the difference between operating room exit time and operating room entry time. | At Day 0 |
| D010524 |
| Peripheral Nervous System Neoplasms |
| D009423 | Nervous System Neoplasms |
| D009422 | Nervous System Diseases |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |